Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49995134dup , CM000679.2:g.49995134dup | GRCh38 |
| NC_000017.10:g.48072498dup , CM000679.1:g.48072498dup | GRCh37 |
| NC_000017.9:g.45427497dup | NCBI36 |
| NG_023063.1:g.5096dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.-131dup MANE Select | ENSP00000389870.2:n.-131dup | |
| NM_005220.2:c.-131dup | NP_005211.1:n.-131dup | |
| XM_011524458.1:c.-131dup | XP_011522760.1:n.-131dup | |
| NM_005220.3:c.-131dup MANE Select | NP_005211.1:n.-131dup |